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Found 6 matching student topics

Displaying 1–6 of 6 results

Investigation of genetic factors that contribute to concussion and its outcomes

The health outcomes from traumatic brain injuries (TBIs) and concussion depend on the nature of the injury, but response also varies greatly between individuals, suggesting that genetic factors may play a role. In particular, due to effects of head trauma on balances of ions, neurotransmitters and energy use in the brain, there is suggestion that variation in the genes that encode proteins involved in these pathways, e.g. ion channels, may affect the risk of, as well as response to a …

Study level
PhD, Master of Philosophy, Honours
Faculty
Faculty of Health
School
School of Biomedical Sciences

Investigating genetic variants involved in Wilson disease and copper metabolism using genome editing

Wilson disease (WD) is a genetic disorder of copper metabolism. It can present with hepatic and neurological symptoms, due to copper accumulation in the liver and brain (1). WD is caused by compound heterozygosity or homozygosity for mutations in the copper transporting P-type ATPase gene ATP7B. Over 700 ATP7B genetic variants have been associated with WD. Estimates for WD population prevalence vary with 1 in 30,000 generally quoted. Early diagnosis and treatment are important for successful management of the disease. …

Study level
Master of Philosophy, Honours
Faculty
Faculty of Health
School
School of Biomedical Sciences
Research centre(s)
Centre for Genomics and Personalised Health

Biological and clinical impact of the association of germline variations in KLK3 (PSA) gene in prostate cancer

Prostate cancer is the most frequently occurring cancer (after skin cancers) in Australian males, and the second most common cause of cancer death. While the 5-year survival rate for localised disease approaches 100%, extra-prostatic invasion results in a poorer prognosis. Kallikreins are serine proteases, which are part of an enzymatic cascade pathway activated in prostate cancer (Lawrence et al 2010). The most well-known member is prostate specific antigen (PSA) or the KLK3 protein, encoded by the Kallikrein 3 (KLK3) gene, …

Study level
PhD, Master of Philosophy, Honours
Faculty
Faculty of Health
School
School of Biomedical Sciences

PSA splice variant in prostate cancer diagnosis and pathogenesis

Current clinical prostate cancer screening is heavily reliant on measuring serum prostate specific antigen (PSA) levels. However, two-thirds of these men will not have cancer on biopsy and conversely, other prostate diseases. As a result, for ~75% of patients the large number of indolent tumours diagnosed has led to significant overtreatment creating an urgent need for appropriate prognostic assays that can distinguish indolent, slow growing tumours from the more aggressive and lethal phenotypes. PSA/KLK3 is a member of the tissue-kallikrein …

Study level
PhD, Master of Philosophy, Honours
Faculty
Faculty of Health
School
School of Biomedical Sciences

Determining the response to PARP inhibitor treatment of ovarian cancer in mouse xenograft model

Our cellular DNA is constantly under threat from both exogenous and endogenous factors. DNA repair pathways function to maintain genomic stability, preventing deleterious mutations that may ultimately lead to cancer initiation. When a tumour forms, it becomes genetically unstable, allowing environmental adaptation. This genetic instability can also result in gene mutations and protein expression alterations that can be targeted to induce cancer-specific cell death (phenomenon also known as synthetic lethality). For example, it has been shown that cells deficient in …

Study level
Honours
Faculty
Faculty of Health
School
School of Biomedical Sciences

Determining the theapeutic efficiency of epigenetic drugs in ovarian cancer

Because cancer and many diseases arise from a combination of genetic propensity and the response of cells to external factors mediated through changes to the expression of key genes, it is important to understand epigenetic regulation. The epigenome is crucial to the changes of gene expression and there is now strong evidence that epigenetic alterations are key drivers of cancer progression. However, very few drugs targeting epigenetic modifiers have been successful, in part due to the lack of effective means …

Study level
Master of Philosophy, Honours
Faculty
Faculty of Health
School
School of Biomedical Sciences

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